Canonical Allele Identifier: CA2678466383
Gene: CDKN1A HGNC NCBI

Linked Data

gnomAD v4: 6-36680991-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36680991T>C , CM000668.2:g.36680991T>C GRCh38
NC_000006.11:g.36648768T>C , CM000668.1:g.36648768T>C GRCh37
NC_000006.10:g.36756746T>C NCBI36
NG_009364.1:g.7310T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244741.10:c.-6+2193T>C MANE Select ENSP00000244741.6:n.-6+2193T>C
ENST00000244741.9:c.-6+2193T>C ENSP00000244741.5:n.-6+2193T>C
ENST00000373711.3:c.-96-1649T>C ENSP00000362815.1:n.-96-1649T>C
ENST00000405375.5:c.-6+2052T>C ENSP00000384849.1:n.-6+2052T>C
ENST00000448526.6:c.-6+3058T>C ENSP00000409259.3:n.-6+3058T>C
ENST00000459970.1:n.189+3058T>C
ENST00000478800.1:n.214+2052T>C
ENST00000615513.4:c.-5-3106T>C ENSP00000482768.1:n.-5-3106T>C
NM_000389.4:c.-6+2193T>C NP_000380.1:n.-6+2193T>C
NM_001220777.1:c.-5-3106T>C NP_001207706.1:n.-5-3106T>C
NM_001220778.1:c.-6+2052T>C NP_001207707.1:n.-6+2052T>C
NM_001291549.1:c.97+3058T>C NP_001278478.1:n.97+3058T>C
NM_078467.2:c.-6+3058T>C NP_510867.1:n.-6+3058T>C
XM_011515041.1:c.*137T>C XP_011513343.1:n.*137T>C
NM_000389.5:c.-6+2193T>C MANE Select NP_000380.1:n.-6+2193T>C
NM_001220777.2:c.-5-3106T>C NP_001207706.1:n.-5-3106T>C
NM_001220778.2:c.-6+2052T>C NP_001207707.1:n.-6+2052T>C
NM_001291549.3:c.97+3058T>C NP_001278478.1:n.97+3058T>C
NM_001374509.1:c.97+3058T>C NP_001361438.1:n.97+3058T>C
NM_001374510.1:c.35-3106T>C NP_001361439.1:n.35-3106T>C
NM_001374511.1:c.-6+2193T>C NP_001361440.1:n.-6+2193T>C
NM_001374512.1:c.-6+2193T>C NP_001361441.1:n.-6+2193T>C
NM_001374513.1:c.-6+2086T>C NP_001361442.1:n.-6+2086T>C
NM_078467.3:c.-6+3058T>C NP_510867.1:n.-6+3058T>C